List of works - Tanya Bardakjian

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

scientific article published on 01 January 2019

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants

scientific article published on 19 November 2020

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

scientific article published on 29 August 2020

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

scientific article

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

scientific article published on 21 December 2018

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

scientific article published on 21 June 2017

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

scientific article published on 15 April 2013

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center

scientific article published on 01 January 2019

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

scientific article published on 30 August 2018

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

scientific article

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

scientific article

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry

scientific article published in January 2005

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

scientific article published on 01 May 2020

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

scientific article

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

scientific article published on February 22, 2011

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

scientific article

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

scientific article published in November 2016

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

scientific article published on 01 December 2010

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

scientific article published on 01 August 2021

Contrast Acuity and the King-Devick Test in Huntington's Disease

scientific article published on 25 November 2019

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

scientific article published on 13 December 2020

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

scientific article

FOXE3 plays a significant role in autosomal recessive microphthalmia

scientific article

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

scientific article

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies ⬇️

scientific article published on November 11, 2010

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

scientific article published on 28 March 2018

Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability

scientific article published on 28 March 2018

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

scientific article published on 24 March 2008

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

scientific article (publication date: July 2011)

Microphthalmia/Anophthalmia/Coloboma Spectrum

scientific article published on 9 July 2015

Monogenic variants in dystonia: an exome-wide sequencing study

scientific article published on 01 November 2020

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

scientific article published in December 2009

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

scientific article

Ocular manifestations of PACS1 mutation

scientific article published on 14 March 2018

POLG mutations presenting as Charcot-Marie-Tooth disease

scientific article published on 10 April 2019

PPP2R5D genetic mutations and early-onset parkinsonism

scientific article published on 23 October 2020

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

scientific article published on 26 April 2019

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation ⬇️

journal article from 'International Journal of Molecular Sciences' published in 2021

Systemic diagnostic testing in patients with apparently isolated uveal coloboma

scientific article

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations ⬇️

scientific article published on December 28, 2011

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

article

The genetics of anophthalmia and microphthalmia ⬇️

scientific article published on September 1, 2011

Towards precision medicine

scientific article published on 01 January 2018

VAX1mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of aVAX1phenotype in humans ⬇️

scientific article published on December 27, 2011

List of works by Tanya Bardakjian

A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy

A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants

A Novel SPAST/SPG4 Splice-Site Variant in a Family with Dominant Hereditary Spastic Paraplegia

A male with unilateral microphthalmia reveals a role for TMX3 in eye development

A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

Addressing the Value of Multidisciplinary Clinical Care in Huntington's Disease: A Snapshot of a New Huntington's Disease Center

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry

Attitudes of Potential Participants Towards Molecular Therapy Trials in Huntington's Disease

Author response: Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome ⬇️

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease

Clinical Reasoning: A 30-year-old man with progressive weakness and atrophy.

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.

Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders

Contrast Acuity and the King-Devick Test in Huntington's Disease

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes

FOXE3 plays a significant role in autosomal recessive microphthalmia

Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies ⬇️

Genetic test utilization and diagnostic yield in adult patients with neurological disorders

Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice

Microphthalmia/Anophthalmia/Coloboma Spectrum

Monogenic variants in dystonia: an exome-wide sequencing study

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis

Ocular manifestations of PACS1 mutation

POLG mutations presenting as Charcot-Marie-Tooth disease

PPP2R5D genetic mutations and early-onset parkinsonism

Peripheral synucleinopathy in a DJ1 patient with Parkinson disease, cataracts, and hearing loss

Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation ⬇️

Systemic diagnostic testing in patients with apparently isolated uveal coloboma

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations ⬇️

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

The genetics of anophthalmia and microphthalmia ⬇️

Towards precision medicine

VAX1mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of aVAX1phenotype in humans ⬇️